TABLE 1. Some common diseases for which prenatal testing is available.
Disease |
Incidence |
Transmission |
Gene |
Mutations |
Ref. |
Cystic fibrosis |
1/2000 (Europe) |
AR |
CFTR |
many (70% Δ F508) |
3 |
Sickle cell anemia |
up to 3% (locally) |
AR |
ß-globin |
single point mutation |
12 |
Congenital adrenal hyperplasia |
1/15000 |
AR |
21-hydroxylase |
many |
10 |
Duchenne muscular dystrophy |
1/3000 males |
XLR |
dystrophin |
many (2/3 deletions) |
13 |
Fragile X syndrome |
1/1200 males |
XLR |
FMR1 |
expanding repeat |
9 |
Steinert myotonic dystrophy |
1/8500 |
AD |
DM |
expanding repeat |
9 |
Familial amyloidotic polyneuropathy type I |
up to 3% (locally) |
AD |
TTR |
single point mutation |
11 |